From SNPedia
| Geno
|
Mag
|
Summary
|
| (A;A)
|
3
|
5.2x risk for T1D; 3.3x for RA
|
| (A;C)
|
2.3
|
1.8x risk for T1D; 2x risk for RA
|
| (C;C)
|
0
|
normal
|
| ? | (A;A) (A;C) (C;C) | 28 |
 |
rs6679677 has been reported in a large study to be associated with
rheumatoid arthritis.
The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.98 (CI 1.72-2.27), and for homozygotes, 3.32 (CI 1.93-5.69). [PMID 17554300]
rs6679677 was also reported in the same study to be associated with type-1 diabetes.
The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.82 (CI 1.59-2.09), and for homozygotes, 5.19 (CI 3.15-8.55). [PMID 17554300]
Recently (Feb 2008), it has been asserted that the association between rs6679677 and type-1 diabetes is actually completely due to a closely linked, potentially causal variant identified as rs2476601, which is also known as Arg620Trp. In this study, apparently the largest to date, the odds ratio for the risk allele (of rs6679677) was reported to be 1.88 (CI: 1.66-2.13).[PMID 18305142]
DeCode reports that the CC genotype is associated with 1.05x higher odds of Crohn's disease. [PMID 18587394]
| GWAS snp
|
| PMID
|
[PMID 18978792]
|
| Trait
|
Type 1 diabetes
|
| Title
|
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci
|
| Risk Allele
|
A
|
| P-val
|
1E-40
|
| Odds Ratio
|
NR NR
|
| GWAS snp
|
| PMID
|
[PMID 18794853]
|
| Trait
|
Rheumatoid arthritis
|
| Title
|
Common variants at CD40 and other loci confer risk of rheumatoid arthritis
|
| Risk Allele
|
|
| P-val
|
6.0000000000000005E-42
|
| Odds Ratio
|
1.79 [1.65-1.94]
|
| GWAS snp
|
| PMID
|
[PMID 17554260]
|
| Trait
|
Type 1 diabetes
|
| Title
|
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
|
| Risk Allele
|
A
|
| P-val
|
7.9999999999999994E-24
|
| Odds Ratio
|
1.89 [1.67-2.13]
|
[PMID 19565500] Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis
| PharmGKB | PA164740752 |
| Name | |
| Annotation | GWAS results: Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. (Initial Sample Size: 3,561 cases, 4,646 controls; Replication Sample Size: 6,225 cases, 6,946 controls, 3,064 trios); (Region: 1p13.2; Reported Gene(s): PTPN22; Risk Allele: rs6679677-A); (p-value= 1E-40).This variant is associated with Type 1 diabetes. |
| Gene | PHTF1, RSBN1 |
| Featue | |
| Evidence | PubMed ID:18978792; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | Diabetes Mellitus, Diabetes Mellitus, Type 1 |
| Curation Level | Non-Curated |
| PharmGKB | PA162355905 |
| Name | |
| Annotation | A genome-wide association study in 2,000 individuals for each of 7 major diseases and a shared set of 3,000 controls found an association of this SNP with type 1 diabetes. |
| Gene | PHTF1, RSBN1 |
| Featue | |
| Evidence | PubMed ID:17554300 |
| Drugs | |
| Diseases | Diabetes Mellitus, Type 1 |
| Curation Level | Curated |
[PMID 22493691] Novel associations for hypothyroidism include known autoimmune risk Loci.